Property Summary

NCBI Gene PubMed Count 499
PubMed Score 2331.54
PubTator Score 1941.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Fragile X-associated tremor/ataxia syndrome 5 0.0 5.0
Disease Target Count Z-score Confidence
Intellectual disability 573 8.222 4.0
Premature ovarian failure 64 6.749 3.4

Expression

  Differential Expression (15)

Disease log2 FC p
psoriasis -1.200 1.3e-03
atypical teratoid / rhabdoid tumor -1.200 3.2e-05
medulloblastoma, large-cell -1.100 3.9e-04
Duchenne muscular dystrophy 1.158 6.1e-05
autosomal dominant Emery-Dreifuss muscul... 1.179 1.4e-02
juvenile dermatomyositis 2.107 3.4e-15
Amyotrophic Lateral Sclerosis 1.282 3.1e-06
acute quadriplegic myopathy 1.445 2.1e-05
intraductal papillary-mucinous neoplasm ... 1.300 1.8e-02
lung cancer -1.200 7.4e-04
sarcoidosis 1.100 6.5e-03
adult high grade glioma -1.100 1.8e-03
subependymal giant cell astrocytoma -1.318 5.4e-03
spina bifida -1.071 3.3e-02
dermatomyositis 1.200 2.9e-03

Protein-protein Interaction (3)

Gene RIF (469)

PMID Text
26963595 Identified a tripartite correlation between schizophrenia, miR-9-5p, and FMR1/FXR1: functional overlaps and differences between FMR1 and its homologues could potentially shed light on both the function of miR-9-5p and the etiology of schizophrenia.
26855684 transcriptional silencing in fragile X syndrome via DNA methylation and hydroxymethylation
26612855 An accumulation of 8 SNPs in the fragile gene family (FMR1, FXR1 and FXR2)were found associated with autistic traits in a sample of male patients.
26600526 PCR-P analysis of parents of female patients may discard or emphasize the suspicion of Fragile X Syndrome . If parents are normal for the mutation in the FMR1 gene, the patient can be concluded to be normal.
26558778 Fmr1 transgenic mice exhibited alterations in protein synthesis and dendritic spine morphology in the hippocampus.
26554012 These data suggest that the disrupted interaction of HuR impairs activity-dependent translation of FMRP, which may hinder synaptic plasticity in a clinically significant fashion.
26409477 The correlation of ovarian reserve and serum anti-Mullerian hormone levels and FMR1 CGG repeat number in women with <55 CGG repeats
26393806 found no evidence for a pathological increase in GSK3beta protein levels upon cellular loss of fragile x mental retardation protein
26393489 Silencing of the fragile X mental retardation gene results in Autism spectrum disorder.
26374839 Crystal structure reveals specific recognition of a G-quadruplex RNA by a beta-turn in the RGG motif of FMRP.
26281226 Fragile X mental retardation syndrome and autism spectrum disorders are both associated with deficit of the mutated FMR1 gene. (Review)
26239490 Results suggest that dysregulation of FMR1 protein/mammalian target of rapamycin pathways can have a role in pathogenesis of encephalopathy of prematurity, as otherwise observed in the most common inherited syndrome of cognitive disability (eg, fragile X syndrome)
26209748 Low FMR1 alleles, therefore, potentially represent a screening tool for women at genetic risk toward premature ovarian senescence, representing in all races circa 10% of the female population
26194536 do not support a possible role for premutation or gray zone alleles in multiple sclerosis Sardinian patients
26125897 Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil identified two unrelated patients with FMR1 mutations.
26095811 Data indicate that key signaling pathways were deregulated in fragile X mental retardation 1 protein (FMR1) premutation carriers with Fragile X-associated primary ovarian insufficiency (FXPOI).
26095802 data indicated the presence of a novel allele for DXS998 in the Iranian population. Estimation of haplotype frequency using Arlequin program showed 50 different DXS998-DXS548-FRAXAC1 haplotypes for the input data of 5, 7 and 4 alleles, respectively
26065250 In case of increasing CGG triplets number the expression of fmr1 gene is repressed.
25966634 We developed one indirect and one direct single-round, single-cell PCR protocols using five highly polymorphic, not previously described, FMR1-linked SSRs
25954027 these data suggest that RAN translation of FMRpolyG ( FMR1)at CGG repeats triggers induction of UPS impairment and alterations in neuronal proteostasis that contribute to pathogenesis in Fragile X-associated tremor ataxia syndrome.
25925982 Microstructural white matter disease, executive dysfunction and slowed processing speed in FMR1 permutation carriers.
25847585 The study presents the profiles of alternatively spliced products of the FMR1 gene in human tissues. Alternatively spliced products lacking exon 12 dominate the expression of FMR1.
25809302 There is a specific epigenetic etiology associated with an increased risk of developing comorbid dysexecutive and social anxiety symptoms in FMR1 pre-mutaton women.
25796179 The data suggest that FMR1 CGG repeats are not a genetic risk factor for essential tremor.
25792692 Results suggest the genetic variation associated with FMR1 affects white matter microstructure independently of overall IQ.
25763861 Advancing age, male sex, and lower X activation of the normal FMR1 allele in women carriers were significant in predicting worse postural balance
25701550 Translational control by the fragile X mental retardation protein. [Review]
25693964 A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.
25692235 Data show that the Shank1 protein mRNA 3' UTR adopts two very stable intramolecular G-quadruplexes which are bound specifically and with high affinity by X mental retardation protein (FMRP).
25689687 Findings show for the first time that greater postural sway among males with the FMR1 premutation may reflect CGG repeat-mediated disruption in vulnerable cerebellar circuits implicated in postural control.
25636091 AGGs and AGG pattern may have important roles in maintaining (CGG)n stability in general population of China, 9A9A6A9 may be a special pattern for preventing (CGG)n unstable expansion in Asian populations.
25579682 BRCA mutation carriers exhibit a distinct CGG FMR1 repeat size pattern compared with the general population, but it is unlikely to account for the reported diminished ovarian reserve or act as a modifier breast cancer gene in BRCA mutation carriers.
25561520 These results reveal a presynaptic- and translation-independent function of FMRP that is linked to a specific subset of FXS phenotypes.
25541421 Its gene premutation have shown subtle but significant impairments in executive control and postural stability.
25464849 FMRP prevents MOV10-mediated microRNA suppression.
25445105 The meta-analysis indicated significant correlation between FMR1 premutation and higher risk of premature ovarian failure in the overall population, as well as in the stratified subgroups (Caucasians and Asians).
25418717 Data indicate that hypermethylation is tightly linked with fragile X mental retardation 1 protein (FMR1) transcriptional inactivation in undifferentiated cells.
25416280 FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain.
25399540 The time course of symptoms of immune mediated disorders and the subsequent development of FXTAS in four women with an FMR1 CGG expansion, are described.
25358783 Unmethylated full mutation FMR1 promoter becomes methylated after reprogramming. The FMR1 gene remains silenced after differentiation of the iPSCs.
25358671 RNA toxicity may arise from a relative increase of all FMR1 mRNA isoforms.
25346430 a significant curvilinear association between CGG repeat length and age at menopause, with women who had mid-range repeats having the earliest menopause, similar to the pattern that has been found for the psychiatric phenotype of the FMR1 premutation
25307758 Extra alleles in individuals with normal karyotypes probably represent FMR1 somatic variation
25180401 This study examined the relationship between the fragile X premutation and restless legs syndrome.
25171808 Data indicate that five new base substitutions were identified in fragile X mental retardation 1 (FMR1) gene.
25153074 A significant negative linear correlation was observed between the granulosa cells FMR1 mRNA levels and the number of retrieved oocytes.
25055869 EZH2 is recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription.
25050920 FMR1 premutation seems to be an uncommon explanation for premature ovarian failure in Han Chinese. However, having both alleles with CGG repeats outside the normal range might still adversely affect ovarian aging.
25036526 absence of BRCA/FMR1 correlations in women with ovarian cancers
25019151 A low FMR1 allele (CGG<26) is associated with significantly poorer morphologic embryo quality and pregnancy chance.
24958193 was not an increased frequency of FMR1 expansions in individuals with cognitive disorders, including Alzheimer's disease, compared with control subjects
24938362 A quadratic model (including age(2)) did not show a relationship with FMR1 CGG level.
24936518 FMR 1 CGG repeats have been found in Egyptian genetic carriers of the fragile X syndrome.
24912415 This small case-control study failed to find associations between CGG repeat sizes or AGG interruptions in FMR1 and premature ovarian failure in Chinese women.
24903624 These preliminary data support a correlation between macroorchidism and lower verbal and full scale intelligence quotient in a relevant proportion of FMR1 premutation carrier males.
24876161 Consistent with the requirements for G-quadruplex formation, authors observed highly clustered WGGA motifs in FMRP targets compared with other genes, implicating both RNA structure and sequence in the recognition motif of FMRP.
24875300 FMR1 carrier rate has an effect on AGG repeat interruptions among Ashkenazi women
24838064 Results demonstrate that FMRP is widely expressed in cell bodies and dendritic arbors of neurons in the human cochlear nucleus and superior olivary complex
24814676 Correlational analyses showed that low working memory capacity was significantly associated with dual-task interference for the gait domains of pace (speed, step length) and variability (step time, swing time) in fragile X mental retardation 1 premutation
24812319 No association was found between CGG repeats of intermediate size in fragile X mental retardation gene 1 and primary ovarian insufficiency patients compared with controls.
24787137 provides a direct molecular link between R-loops and the pathology of TREDs, suggesting that R-loops act as an initial trigger to promote FXN and FMR1 silencing
24773414 The eye movements are sensitive to impaired inhibitory control in Fragile X premutation carriers asymptomatic for developing a neurodegenerative motor disorder.
24743386 Transcription through the GC-rich FMR1 5'UTR region favors R-loop formation.
24727796 Results show that FMRP regulates miR196a-mediated repression of HOXB8 via interaction with the AGO2 MID domain.
24718368 FMR1 CGG repeat expansions are associated with decreased immune responses and immune dysregulation in both humans and mice.
24658146 Transient nucleolar localization of FMRP underlies a strong nucleocytoplasmic translocation, in a complex with nucleolin in order to regulate translation of its target mRNAs.
24612675 assessed 30 aPM men and 38 intrafamilial controls
24591415 Observed association between CGG repeat length and percent of methylation in FMR1 with the severity of the clinical phenotypes of fragile X syndrome.
24578575 FMR1 silencing is mediated by the FMR1 mRNA.
24521091 FMR1 premutation carriers show elevated response latencies in symbolic learning tasks.
24514761 critical host factor used by influenza A virus to facilitate viral ribonucleoprotein assembly
24463622 Results demonstrated that both enhanced Fmr1 mRNA production and diminished FMRP production are correlated with increasing CGG-repeat size.
24462888 review of targets of FMRP (mRNAs and proteins) that may have an impact on the Fragile X Syndrome phenotype by deregulating some key cellular processes, such as translation, cytoskeleton remodeling and oxidative stress.
24452737 We found no significant association between FMR1 premutation and premature ovarian failure in Indian population. However, the meta-analysis showed an increased risk of POF associated with a premutation, especially among populations from European descent.
24428240 carriers of premutations in the mid-size CGG repeat of the FMR1 gene may be at greatest risk for the development of psychiatric disorder
24423935 Our data do not support an association between intermediate CGG repeat length and levels of AMH or FSH among fertile women.
24419320 Chromosome fragility and the abnormal replication in the FMR1 gene are associated with fragile X syndrome.
24398265 This study study provides the first evidence on altered neural correlates of temporal processing in adults with the premutation, explained by their FMR1 gene expression.
24332449 A premutation (PM) expansion (55-200 CGG) in the fragile X mental retardation gene 1 causes elevated messenger RNA and reduced fragile X mental retardation gene 1 protein.
24289922 due to the absence of replication initiation that would typically occur upstream of FMR1, suggesting that altered replication origin usage combined with fork stalling promotes repeat instability during early embryonic development.
24281364 No association between FMR1 low genotypes and BRCA1/2 mutations in a cohort of 125 Ashkenazi women.
24261641 The AGG/CCT interruptions clearly play an important role in maintenance of the CGG/CCG repeat tact in the FMR1 gene.
24249225 A feedback mechanism involving the FMRP interactions with the G-quadruplex structures formed within FMR1 mRNA.
24207117 Autism spectrum disorder de novo single-gene disruptions preferentially affect genes in the embryonically upregulated FMRP module 1.
24204304 As FMRP is an RNA-binding protein, its presence in Cajal bodies suggests additional functions in nuclear post-transcriptional RNA metabolism.
24184744 lack of FMR1's gene product, the fragile X mental retardation protein (FMRP) in neurons is the cause of the Intellectual disability in patients with FXS.
24141422 FMRP and CPEB1, an activator of translation, are present in neuronal dendrites, are predicted to bind many of the same mRNAs and may mediate a translational homeostasis that, when imbalanced, results in fragile X syndrome.
24092663 FMRP binds mRNAs involved in epithelial mesenchymal transition and invasion including E-cadherin and Vimentin mRNAs.
24065114 The distribution of FMR1 CGG repeat numbers in BRCA mutation carriers and non-carriers is similar in contrast to previous reports.
24045061 This study provideed the evidence on the aberrant neural correlates of magnitude estimation processing in premutation carriers accounted for by their FMR1 gene expression.
24028275 we report a Chilean family affected with FXS, inherited from a parent carrier of an FMR1 unmethylated full mosaic allele, who presented with a fast progressing FXTAS.
24003006 data add to the growing evidence base that women with the FMR1 premutation have an increased risk of psychiatric illness and risk for early menopause.
23949867 A report on both an expansion and contraction of a maternal FMR1 premutation allele in fraternal twins.
23948096 Screening for low FMR1 CGGn < 26 at young age, thus, appears predictive of later prematurely diminished functional ovarian reserve
23896050 these findings showed age- and genetically-modulated changes in dual-task postural displacement in the medio-lateral direction in female FMR1 carriers
23874213 FXS cells and its splicing is correlated to that of the FMR1-mRNA. We conclude that CTCF has a complex role in regulating FMR1 expression, probably through the organization of chromatin loops between sense/antisense transcriptional regulatory regions
23867198 this review described the the FMR1 premutation contributed to fragile X-associated tremor/ataxia syndrome, neurodegenerative and medical disorders.
23838275 Patients with schizophrenia displayed lower FMRP levels in peripheral lymphocytes as compared to controls.
23786467 we report on four members of a family including two compound heterozygous premutation of the FMR1 gene with similar CGG allele sizes, affected with different levels of clinical severity
23760159 The molecular mechanism of primary ovarian insufficiency in BRCA1/2-female carriers is not likely to be associated with low FMR1 sub-genotype.
23753897 Males with the fragile X premutation express expanded CGG repeats in the FMR1 gene and elevated FMR1 mRNA levels, both of which may underlie the occurrence of late-onset fragile X-associated tremor/ataxia syndrome.
23740716 examined results from three previously published FMR1 prevalence studies and found similar female:male ratios for CGG repeats in this "expanded" gray zone range
23739124 The molecular structure and the transmission of an FMR1 premutation allele in a multigenerational family, identified through newborn screening for fragile X syndrome, is reported.
23731704 There is a positive correlation between multiples of median of serum anti-Mullerian hormone and number of CGG repeats in allele 2 in women aged over 35 years
23703681 FMR1 premutations are not as prevalent in women with ovarian insufficiency as previous estimates have suggested, but they still represent a substantial cause of primary ovarian insufficiency and early menopause.
23683082 we estimated the female female premutation carrier frequency and the risks of expansion to female premutation in Korean diagnostic samples collected for FMR1 gene testing
23660422 We have developed a rapid, highly sensitive method for quantifying FMRP from dried blood spots and lymphocytes.
23560306 Rare individuals with the FMR1 trinucleotide expansion but with an unmethylated promoter (and thus, FMRP production), present a much less severe form of Fragile X syndrome. (Review)
23537988 Basque women with premature ovarian failure have a significant increase in FMR1 alleles with intermediate CGG repeat size.
23528734 Our data confirm the previously reported highly skewed distribution of FMR1 genotypes and sub-genotypes toward a high preponderance of low FMR1 alleles in BRCA1/2 carriers.
23527791 study clarified the structural rearrangements that the KH2 domain undergoes as a consequence of the Ile304Asn mutation using molecular dynamics (MD) and show that the mutation slightly opens the hydrophobic core and distorts the nucleic acid-binding site
23523717 Our results demonstrate a linguistic profile in the female FMR1 premutation carriers characterized by dysfluencies associated with deficits in organization and planning, with a clear impact of age.
23504400 The presence of anti-ovarian antibodies above 10 IU/mL is associated with the normal number of CGG repeats in regard to ovarian reserve and a better preservation of follicular primordial pool in the women with premature ovarian failure.
23392687 Loss of presynaptic Fmr1 has no effect on excitatory synapses onto excitatory neurons.
23390134 The 3' UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse.
23373759 We hypothesize that the increased prevalence of migraine headaches in FMR1 premutation carriers is likely related to the mitochondrial abnormalities that have recently been reported.
23356558 We found the expected significant DNA methylation differences in the FMR1 promoter and 5' UTR, we also saw that these changes inverse in the FMR1 gene body.
23313071 There is also indirect evidence that FMRP may be involved in a negative feedback mechanism with metabotropic glutamate receptors
23307923 We examined the relationship between age, the size of the FMR1 CGG expansion and the methylation output ratio (MOR) at 12 CpG sites proximal to the exon 1/intron 1 boundary using FREE2 MALDI-TOF MS.
23298734 Diffuse subcortical white matter changes occur in asymptomatic FMR1 premutation carriers.
23266944 Study determines the range of potential neurodevelopmental disability associated with these historically asymptomatic FMRP cytosine-guanine-guanine expansion sizes
23235829 Among highly enriched targets, identification of genes involved in autism spectrum disorders and show that FMRP affects their protein levels in human cell culture, mouse ovaries and human brain
23219959 Neural differentiation of Fragile X human Embryonic Stem Cells reveals abnormal patterns of development despite successful neurogenesis
23211703 Data indicate that craniofacial abnormalities were identified in fragile X syndrome with FMR1 mutations.
23198693 New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease.
23154068 The number of CGG repeats in the normal and intermediate range in the FMR1 gene is not associated with age at natural menopause.
23146966 This study provided novel evidence regarding a dosage response of the FMR1 gene on fear-specific functions of the amygdala, which is associated with socioemotional deficits in FXS.
23123760 This study demonistrated that premutation carriers have specific problems with certain aspects of mathematics in female.
23111161 Clinical examination of the FMR1 premutation carriers identified revealed that all of them had important neurological symptoms with regard to muscular symptoms, neurocognitive alterations and neurovegetative impairments
23060046 The FREE2 methylation test provides accurate diagnosis of FXS and also provides prognostic information and if used in combination with a test for SRY can also detect the vast majority of sex chromosome aneuploidies.
23009394 The grey zone (45-54 CGG repeats in the FMR1 gene) is described in Fragile X Tremor Ataxia Syndrome patients.
22993428 This study demonistrated that Learning and memory deficits consequent to reduction of the fragile X mental retardation protein result from metabotropic glutamate receptor-mediated inhibition of cAMP signaling in model of Drosophila.
22984553 BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes
22963248 functional ovarian reserve changes in different races at different rates, and appears to parallel ovarian fragile X mental retardation 1 (FMR1) genotypes and sub-genotype distributions
22924671 This study demonstrated that pre-CGG of fmr1 in hippocampal neurons show abnormalities in the number, mobility, and metabolic function of mitochondria.
22914733 FMR1 premutation RNA could cause the POI associated with FMR1 premutation carriers, and the Akt/mTOR pathway may serve as a therapeutic target for FXPOI.
22903700 detection of premutation carriers for the FMR1 gene among individuals diagnosed with fibromyalgia
22890812 this report supports the notion that FMR1 gene dosage is important for normal neurocognitive function.
22887750 Data indicate that expansions of a CGG*CCG repeat tract in the 5' UTR of the fragile X mental retardation 1 (FMR1) gene occurs in the somatic cells of both mice and humans carriers of premutation alleles.
22880518 Fragile X-associated tremor/ataxia syndrome occurs in male carriers of a premutation expansion of the FMR1 gene.
22863780 DSCR1 is a novel regulator of FMRP and Fragile X syndrome and Down syndrome may share disturbances in common pathways that regulate dendritic spine morphology and local protein synthesis
22842191 15q11.2 microdeletion and FMR1 premutation is associated with intellectual disabilities and autism.
22811313 Data suggest that effectiveness of androgen replacement varies with FMR1 genotypes; here, dehydroepiandrosterone/androgen dietary supplementation facilitates ovarian function which positively influences pregnancy chances with in vitro fertilization.
22797890 guidelines are intended to assist genetic counselors in providing accurate risk assessment and appropriate educational and supportive counseling for individuals with positive test results and families affected by FMR1-associated disorders
22737234 Fragile mental retardation protein interacts with the RNA-binding protein Caprin1 in neuronal RiboNucleoProtein complexes
22708486 REVIEW: the relatively new role of FMRP in progenitor cells is reviewed, as is FMRP localization in cells and how FMRP is regulated by glutamatergic signaling in the brain.
22619118 The primary goal of this study was to calculate the prevalence of the premutation of the FMR1 gene and of the "gray zone" using a population-based sample of older adults in Wisconsin.
22584570 TDP-43 is physically associated with fragile X mental retardation protein (FMRP) and Staufen (STAU1) to form a functional complex.
22581803 data suggest that CGG repeats of 35-44 may be markedly overrepresented in women with diminished ovarian reserve whereas the current fragile X mental retardation 1 reference range indicates that there is no clinical phenotype with <45 CGG repeats
22579290 Study identifies a species-dependent posttranscriptional regulation of human NOS1 by FMRP in specific neocortical circuits during column development and synaptogenesis, and showed it to be altered in Fragile X syndrome.
22573456 Genetic variants in CRHR1 that associate with differential cortisol activation may also modulate levels of anxiety related to the stress of raising a child with fragile X syndrome among women who carry an FMR1 premutation.
22568721 Data indicate that CGG repeats premutation FMR-1 carriers are at risk of the fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia.
22561129 These data suggest that CGG KI mice show reduced spatial and temporal resolution that are modulated by the dosage of the Fmr1 gene mutation.
22539853 This study provided evidence that FMRP functions as a translational switch to regulate steady-state dendritic Arc levels and mGluR-triggered Arc synthesis during LTD
22528549 the risk of hypertension is significantly elevated in male FMR1 premutation carriers with FXTAS compared with carriers without FXTAS and controls.
22507827 Our conclusion is that FMR1 repeat expansions are not associated with ALS.
22498846 The presence of AGG interruptions reduced the risk of transmission of a full FMR1 mutation for all maternal (premutation) repeat lengths below ~100 CGG repeats.
22493044 intermediate CGG repeat length at the FMR1 locus may have a role in trisomic pregnancy
22489017 reduced telomere length is associated with both premutation and full mutation-FMR1 alleles
22438971 Known associated with low functional ovaran reserve (FOR) at young age, het-norm/high appears to preserve FOR into older age, and both het sub-genotypes appear to expand female reproductive lifespan into opposite directions.
22430918 several chromatin remodeling drugs reactivate FMR1 gene expression.
22387066 FMR1 GZ allele is potentially associated with parkinsonism in mainland China, and the association is only present in the female patients, but not in the male.
22357842 This study suggested that control of FMRP levels at the synapse by dephosphorylation-induced and UPS-mediated degradation provides a mode to regulate protein synthesis.
22351071 FMR1 triplet expansions account for two neurological diseases, Fragile X syndrome and Fragile X Tremor Ataxia Syndrome. (Review)
22266345 we showed that FMRP may the primary factor associated with visual dysfunctions in premutation carriers
22251309 no global executive function impairment seen in male FMR1 premutation allele carriers without fragile X-associated tremor/ataxia syndrome compared to noncarriers. Impairment in inhibitory capacity may be present among a subset of carriers.
22235103 The data suggest that hypermethylation of the FMR1 intron 1 sites in blood is predictive of cognitive impairment in FM females, with implications for improved fragile X syndrome diagnostics in young children and screening of the newborn population.
22211843 These results may indicate that, in Arratia, SNP status does not identify a pool of susceptible alleles, as it does in Markina
22210492 FMRP is not associated with polyribosomes in platelets.
22207187 Dysregulated FMRP protein synthesis and PI3K activity in patient cells might be suitable biomarkers to quantify the efficacy of drugs to ameliorate molecular mechanisms underlying Fragile X Syndrome
22161987 This study described 3 patients with FMR1 ( 45-54 CGG repeats)alleles who meet diagnostic criteria for FXTAS.
22157911 Data suggest that ovarian stimulation is not affected by CGG repeats on FMR1 gene (of normal/intermediate length) in fertile women (i.e., oocyte donors); thus, genetic variation in FMR1 does not predict ovarian response to gonadotropin stimulation.
22102001 in the presented family with heterogeneous clinical presentation we found 4 premutations and one full mutation in the FMR1 gene.
22101959 FMR1 accounts for ~5% of the variance while polygenes account for ~50% of the residual variance, suggesting that the premutation acts in concert with additional genetic loci to influence the severity of ADHD symptoms
22080836 human FMRP S500 phosphorylation is necessary for its in vivo function as a neuronal translational repressor and regulator of synaptic architecture, and for the manifestation of FMRP-dependent learning behavior
22022567 These findings provide evidence for a key role for FMRP early in human neurodevelopment prior to synaptogenesis.
22001913 Data show that seizures occurred more frequently in those with the FMR1 premutation and co-morbid autism spectrum disorder (ASD) particularly in probands compared with those with the premutation alone (25 vs. 3.85%, p = 0.045).
21969264 Review explores the range of ovarian dysfunction, the mechanisms behind the dysfunction, and the reasons for the variability in presentation in women who carry the FMR1 premutation.
21944929 The prevalence of having >36 CGG repeats in the FMR1 gene was significantly higher in Japanese patients with primary ovarian insuffiency than in controls.
21932336 The presence of sleep apnea is not associated with CGG repeat numbers nor FMR1 mRNA expression level among premutation carriers.
21909353 Cryptic inter-cell mosaicism in DNA methylation can account for the presence of FMR1 mRNA in some individuals with fragile X syndrome.
21868366 regulatory function of the region proximal to the RGG box
21818263 The influence of presence of AGG interruptions or the length of a pure stretch of CGG repeats on the levels of FMR1 mRNA in blood, were determined.
21786216 The current study utilizes structural magnetic resonance imaging (MRI) to examine the relationship between amygdala volume, CGG expansion size, FMR1 mRNA, and psychological symptoms in male premutation carriers
21785977 Inclusions are found in multiple tissues from fragile X syndrome cases, including pancreas, thyroid, adrenal gland, gastrointestinal, pituitary gland, pineal gland, heart, and mitral valve, as well as throughout the associated autonomic ganglia.
21775729 With increasing age and only in men with an FMR1 expansion of >100 CGG repeats was there an association between age and poorer task performance on selective executive function measures involving inhibition and executive working memory.
21767618 generated cell lines harboring the FMR1 5'-UTR with varying CGG repeat lengths in front of a reporter gene. The influence of various CGG repeat lengths for reporter gene expression can be examined where the only genetic difference is CGG repeat lengths.
21749915 These results suggest that healthy persons with lower peripheral FMRP expression display a visual phenotype similar to that described in patients with Fragile X syndrome
21723415 The relationship of FMRP expression with methylation patterns of two fragile X-related epigenetic elements (FREE) analyzed, is reported.
21651511 Expansions of the CGG repeat in the FMR1 gene are involved in three distinct disorders in which the size of the CGG repeat ultimately defines the clinical phenotype. (Review)
21642970 The structure of the complex between an arginine-glycine-rich RGG peptide from the human fragile X mental retardation protein (FMRP) and an in vitro-selected guanine-rich (G-rich) sc1 RNA has been determined.
21639881 The complex inheritance and wide spectrum of phenotypes associated with the FMR1 (CGG)n reinforces the importance of genetic counseling in these families.
21630353 This study presented two case of Fragile X-associated tremor ataxia syndrome sine tremor.
21597380 Data show that The highest association with menopausal age among fragile X mental retardation 1 premutation carriers was found for risk index by CGG repeat size.
21596781 The CGG repeats present in the 5'-untranslated region of the fragile X mental retardation gene FMR1 was studied in crystal structures of double-helical CGG repeats containing native and 8-Br modified guanosine residues.
21576079 We developed a unique standardized AMH value, taking FMR1 premutation status and the subject's age into account, which appears to be stable over time and may serve as a predictor for primary ovarian insufficiency.
21567456 This study suggested that fragile X mental retardation 1 gray-zone alleles may be associated with Parkinson's disease in women.
21554789 the current study seem to suggest that female fmrp carriers may have spared basic psychomotor functionality
21526209 FMR1 genotypes offer a possible explanation for differences in IVF outcomes between races/ethnicities.
21484870 white matter abnormalities in the cerebellar-brain stem and limbic systems among individuals with the fragile X premutation suggests the involvement of molecular mechanisms related to the FMR1 gene in their white matter pathology
21478165 FMR1 mRNA in human brain is expressed as a combination of multiple isoforms that use alternative transcriptional start sites and different polyadenylation sites.
21445959 occurrence of white matter hyperintensities in a basis pontis in the carriers of FMR1 small CGG expansions presenting with tremor and ataxia.
21443343 Data show that FMR1 premutation is associated with deficits in general intelligence and memory among older males with symptoms of FXTAS.
21427756 No evidence was found of an excess of intermediate alleles at the FRAXA locus in three pathologies, intellectual disabilities, attention-deficit/hyperactivity disorder and autism, from different Spanish regions.
21389081 Expression of a normal (30 CGG) repeat enhanced green fluorescence protein (eGFP) reporter mRNA did not appear to adversely affect cells even at mRNA concentrations exceeding 100-fold the level of endogenous FMR1 mRNA in transfected SK cells.
21335413 A large variance of the FMR1 transcript level in patients with premature ovarian failure does not correlate to variance of CGG triplet numbers.
21295394 Here we show that young adult female fragile X premutation carriers show subtle, yet significant, age- and FMR1 gene mutation-modulated cognitive impairments as tested by a quantitative magnitude comparison task
21276648 Data from a Polish population suggest FMR1 gene premutations and X translocations are relatively common genetic causes of primary ovarian insufficiency.
21270637 Small CGG expansion FMR1 alleles (gray zone and lower end premutation) play a significant role in the development of the parkinsonian phenotype.
21254876 CGG/GCC repeat polymorphism at the FMR1 and FMR2 loci observed in this study demonstrated a racial and ethnic variation among the populations in India.
21254619 FMR1 gene "risk zone" alleles can be one of the hereditary susceptibility factors of impairment natural and stimulated ovulation.
21209411 Results suggest that blockade of the mGluR5 receptor in patients with full methylation at the FMR1 promoter may show improvement in the behavioral attributes of FXS.
21179569 FMR1 genotype with autoimmunity-associated polycystic ovary-like phenotype has a role in decreased pregnancy chance
21116185 fragile X syndrome carrier rate is higher than previous estimates for the US population
21047554 Alterations in BDNF/TrkB signaling modulate brain development and impair synaptic plasticity in a transgenic model of fragile X syndrome.
20981777 examination of the neurobehavioral phenotypes of fragile X syndrome and FMR1 premutation as they manifest across the lifespan of the individual [review]
20961665 In the upper end of the premutation range, the level of FMR1 deficit may contribute significantly to the prepulse inhibition deficit observed in premutation carriers with higher CGG repeat alleles.
20955631 These observations suggest a direct FMR1 effect on follicular recruitment and OR and, therefore, on women's fecundity.
20938029 This study showed that FXTAS in women can also develop as a multisystem neurodegenerative disorder with central and peripheral nervous system involvement, and both motor and mental disturbances.
20843831 Fragile X syndrome is shown to be related to silencing of FMR1 gene which is associated with elevated levels of Histone H3 trimethylated at lysine 9 (H3K9Me3) and histone H4 trimethylated at lysine 20 (H4K20Me3).
20816038 Mood and anxiety disorders may be part of the clinical phenotype of the fragile X premutation conditions, especially in carriers with FXTAS.
20734064 Observational study of gene-disease association. (HuGE Navigator)
20727716 This is the first demonstration of the reduction of FMRP in brains of subjects with schizophrenia, bipolar disorder, and major depression.
20629912 Women with the FMR1 premutation appear to have a high incidence of depression and increased symptoms of anxiety
20616364 Observational study of genetic testing. (HuGE Navigator)
20597902 study demonstrates that allelic diversity of the FMR1 locus among Ghanaians is comparable to African Americans, but includes a minority of CGG array structures not found in other populations
20597902 Observational study of genotype prevalence. (HuGE Navigator)
20573435 Findings suggest that behavioral markers may serve as a clinically useful indicator of the Fragile X Premutation status. This provides a means to identify those at greatest risk for developing the newly identified Fragile X Tremor/Ataxia Syndrome (FXTAS).
20537351 These results indicate altered prefrontal cortex activity that may underline executive and memory deficits affecting some individuals with FMR1 premutation including FXTAS patients.
20537351 Observational study of gene-disease association. (HuGE Navigator)
20473314 FMRP represses translation by recruiting APP mRNA to processing bodies, whereas hnRNP C promotes APP translation by displacing FMRP, thereby relieving the translational block.
20442204 These results indicate that FMR1 gene function is evolutionarily conserved in neural mechanisms and cannot be compensated by either FXR1 or FXR2, but that all three proteins can substitute for each other in non-neuronal requirements.
20435064 used computer programs to predict miRNA targets on the FMR1 3' UTR, developed chimeric constructs which suggested that some of the miRNAs could repress gene expression by interacting with the miRNA targets
20431035 Observational study of genetic testing. (HuGE Navigator)
20410144 Correlation between amplitude of late positivity and CGG repeat length in fragile X-associated tremor/ataxia syndrome. Higher levels of FMR1 mRNA were associated with smaller N400s to incongruous words and larger positive amplitudes to congruous words.
20398889 Mutations of FMR1 are present in women with premature ovarian failure.
20378415 Observational study of gene-disease association. (HuGE Navigator)
20362512 Observational study of gene-disease association. (HuGE Navigator)
20298211 Developmental roles of FMRP and their possible relationship to symptoms found in adults with Fragile X syndrome.
20228389 intermediate sized FMR1 CGG repeat alleles should not be considered a high-risk factor for premature ovarian failure based on current evidence
20228389 Observational study of gene-disease association. (HuGE Navigator)
20221430 missense mutations in FMR1 are not a common cause of the FXS phenotype in patients who have normal-length CGG-repeat tracts
20187721 the evaluation of triple-CGG counts on the FMR1 gene in young women may offer a partial view into their reproductive future.
20168238 Observational study of genetic testing. (HuGE Navigator)
20149747 racial/ethnic groups appear to differ significantly in triple CGG distributions on the FMR1 gene. Differences may, at least in part, be responsible for reported differences in ovarian function and fertility parameters amongst races/ethnicities.
20149747 Observational study of gene-disease association. (HuGE Navigator)
20141036 ZF5 downregulated the activity of 5'-regulatory region of FMR1 gene acting probably through canonic 5'-GCGCGC3' sites. CGGBP-20 downregulates the activity of 5'-region of FMR1 gene in the presence of GCC-triplets only.
20118148 DNA methylation of fragile X alleles is was inversely correlated with the FMR1 activation ratio.
20082462 analysis of a paternal premutation in the FMR1 gene [case report]
20059484 The frequency of self-reported diagnoses obtained through medical history interviews from FMR1 premutation carriers and non-carriers aged 18-50 were analyzed.
20059484 Observational study of gene-disease association. (HuGE Navigator)
20047076 contributes to synaptic plasticity and modulation within the prefrontal cortex; review
19927162 These results suggest that the 80-89-repeat group may lead to different properties that increase the efficiency of translation compared with other premutation repeat size groups.
19908235 This study assessed the relationship between hippocampal volume and psychological symptoms in carriers, both with and without FXTAS, and controls.
19864489 Lamin A/C expression/organization is altered in fibroblasts from 11 male carrying premutation alleles of the FMR1 gene.
19863547 Carriers of FMR1 alleles of 55+ triplets with no family history of the disease may have a significant risk of expansion to a full mutation in a single generation.
19863547 Observational study of gene-disease association. (HuGE Navigator)
19853235 A distinct DNA-methylation boundary in the 5' upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome.
19810826 Observational study of genetic testing. (HuGE Navigator)
19806593 protocols are also used to evaluate CGG repeat size in two adult-onset conditions known for their association with FMR1 premutation alleles, Fragile X Tremor/Ataxia (FXTAS) syndrome and Premature Ovarian Failure (POF).
19804849 analysis of methylated FMR1 DNA in fragile X syndrome
19796183 results suggest that the FMR1 grey zone alleles, as well as premutation alleles, might contribute to the aetiology of disorders associated with parkinsonism.
19794313 [review] Much of the reviewed research of fragile X-associated tremor/ataxia syndrome has focused on understanding the link between the pathogenic FMR1 messenger RNA and the potential proteins that interact with it.
19778484 Approximately 29-30 CGG repeats appear reflective of normal ovarian reserve, with higher and lower counts denoting similar risks towards premature ovarian senescence.
19778484 Observational study of gene-disease association. (HuGE Navigator)
19764037 45,X/46,XX mosaicism is much more common than expected in fragile x full mutation females.
19760650 Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders.
19728537 Differences in factors implicated in CGG repeat instability--CGG repeat size, XS548/FRAXAC1 haplotypes, and AGG interspersion pattern-are present in the Basque populations analyzed.
19712568 results of this study indicate that FMR1 premutations are rare in sporadic cases of POF with no family history of fragile X syndrome
19642041 Premature ovarian senescence and infertility in ranges up to 55 triple CGG repeats are associated with increasing triple CGG numbers on the FMR1 gene.
19642041 Observational study of gene-disease association. (HuGE Navigator)
19619908 We report for the first time on a female individual with TTC, who happened to be carrier of an FMR1 gene mutation, alleles of an intermediate size between 40-55 triplet premutations.
19574929 This review describes fragile X-associated tremor/ataxia syndrome as a neurodegenerative disorder caused by a CGG repeat expansion in the premutation range (55-200) in the fragile X mental retardation 1 (FMR1) gene.
19574928 Review highlights the development of a transgenic mouse line carrying an expanded CGG trinucleotide repeat in the 5'-untranslated region of the Fmr1 gene, along with the behavioral, histological and molecular characteristics of these mice.
19542082 Male carriers of midsize to FMR1 large premutation alleles had a sixfold increased risk of developing cognitive decline and the risk increases with allele size.
19542082 Observational study of gene-disease association. (HuGE Navigator)
19525339 Results report a single-generation expansion of FMR1 to a full mutation allele (approximately 538 CCG repeats) from a carrier of a premutation allele of 56 CGG repeats.
19487368 FXR1P and FXR2P KH2 domains bind G-quadruplex and kissing complex RNA with the same affinity as the FMRP KH2 domain.
19481741 Premutation carriers with <100 CGG repeats suffer from impaired ovarian response and decreased fertilization rate.
19436069 CaMKIV is a molecular link between Group I mGluRs and fragile X mental retardation protein in anterior cingulate cortex neurons
19422761 Fragile X premutation-associated conditions are part of the clinical differential diagnosis of several psychiatric syndromes, particularly in pedigrees with known fragile X syndrome cases.
19396385 FMRP recognition of G quadruplex structure per se is sufficient for high affinity binding to RNA.
19367323 analysis of FMR1 premutation associated pathologies in fragile X syndrome families
19361583 The frequency of fragile X syndrome in patients with mental retardation from Iran was determined.
19341325 The researchers found no evidence that no common ancestral X chromosome is associated with the fragile X syndrome in a studied Croatian population.
19341325 Observational study of gene-disease association. (HuGE Navigator)
19273535 The quadruplex-interacting cationic porphyrin TMPyP4 by itself and in cooperation with CBF-A or hnRNP A2 also unfolded quadruplex r(CGG)(n) and increased the efficiency of translation of 5'-(CGG)(99) containing reporter firefly mRNA.
19265746 neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation
19249802 fragile X mental retardation protein (FMRP) interacts with HIV-1 Gag and is packaged into virus particles
19249802 FMRP is incorporated into HIV-1 particles through association with viral RNP complex including NC, CA, and RT
19235102 low frequency of FXTAS in the studied material probably results from the fact that the syndrome is much more common in elderly persons (penetrance of the pathogenic premutation gene is higher among elderly individuals).
19235102 Observational study of gene-disease association. (HuGE Navigator)
19215057 FMR1 function was evaluated in males with fragile X syndrome and after therapeutic intervention.
19211207 Data indicate that the length of the CGG repeat within FMR1 is unlikely to be responsible for autism in Japanese.
19211207 Observational study of gene-disease association. (HuGE Navigator)
19204162 Screening of women within the parkinsonism clinical spectrum is unlikely to be productive in the absence of additional medical or family history suggestive of involvement of the FMR1 gene.
19204162 Observational study of gene-disease association. (HuGE Navigator)
19197218 Observational study of gene-disease association. (HuGE Navigator)
19193898 The neurological defects in fragile X syndrome could be due in part to the loss of FMRP function in presynaptic compartments.
19155329 Phosphorylation of FMRP regulates its association with the miRNA pathway by modulating association with Dicer.
19147914 These data reveal ethnic differences in the FMR1 gene and implies a complicated evolution of this gene.
19116286 Correlation of triple CGG repeat counts on the FMR1 gene have predictive value for the ovarian response to stimulation with gonadotropins and oocyte yield during in vitro fertilization.
19105204 Although arising from the mutations in the same gene, distinct mechanisms lead to fragile X syndrome (absence of FMRP) and fragile X-associated tremor/ataxia syndrome, FXTAS (toxic RNA gain of function).
19097999 Improved translation efficiency of ASH1 mRNA by FMRP may represent an important regulatory switch in neuronal differentiation.
19056494 abnormalities in neurogenesis in embryonic FMRP-deficient brain associated with increased density of pyramidal cells of layer V postnatal neocortex suggesting role for FMRP in regulation of differentiation of neocortical glutamatergic neurons
19041959 FMRP compound heterozygous in two sisters for a premutation were referred because of very early menopause, occurring at the age of 17 years in the youngest sister
19026394 No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50.
19026394 Observational study of gene-disease association. (HuGE Navigator)
19005212 Data support the proposal that fragile X mental retardation protein plays a role in controlling the fate of mRNAs after translation arrest.
18973899 These results suggest that women with oPOI might be at risk of carrying alleles in the intermediate and premutation range.
18973899 Observational study of gene-disease association. (HuGE Navigator)
18922172 multiple stimuli influence IRES-dependent translation of the FMR1 mRNA and suggest a functional role for the CGG nucleotide repeats
18789568 results suggest that female fragile X premutation carriers with normal intelligence are selectively impaired on tests of visual M pathways
18687789 A pseudo-full mutation identified in fragile X assay reveals a novel base change abolishing an EcoRI restriction site.
18664458 propose a contribution of Tdrd3 to FMRP-mediated translational repression and suggest that the loss of the FMRP-Tdrd3 interaction caused by the I304N mutation might contribute to the pathogenesis of Fragile X syndrome
18656952 These data support a novel model for FMRP arginine methylation and a role for conformational switch residues in arginine modification.
18630123 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18628788 A euchromatic configuration in the FMR1 unmethylated full mutations.
18583885 The positive rate of FXS was in the range of 0.77-8.51%, depending on the study groups and the method of diagnosis in South Korea
18570292 The findings emphasize the importance of including an assessment of co-occurring conditions in any clinical evaluation of individuals with abnormal variation in the FMR1 gene
18565783 This case series illustrates that some patients who are FMR1 premutation carriers may appear by history and examination to have idiopathic Parkinson disease. Based on previous studies it is likely that the genetic mutation and parkinsonism are associated.
18565783 Observational study of gene-disease association. (HuGE Navigator)
18553360 Major depression in females with the FMR1 premutation may not be characterized as an episodically chronic recurrent disorder as it is in community samples
18535897 premutation carriers of FMR1 may be at risk for emotional morbidity; this study shows that phenotypic differences are subtle and of small effect size
18487560 Ours is the first case of a woman with premutation alleles in the FMR1 gene who also had dementia.
18472033 An inhibitory deficit and its impact across the lifespan are specifically associated with the fragile X premutation status, and may be a precursor for development of a more severe form of cognitive impairment or dementia.
18472033 Observational study of gene-disease association. (HuGE Navigator)
18471319 Observational study of genetic testing. (HuGE Navigator)
18427356 Observational study of gene-disease association. (HuGE Navigator)
18413472 Male premutation carriers had significant conduction abnormalities of motor and sensory nerves that correlated with molecular measures, suggesting that the premutation FMR1 genotype is a causal factor.
18413472 Observational study of gene-disease association. (HuGE Navigator)
18412117 A mosaic deletion of 1,013,395 bp in FMR1 was found (using high-density X chromosome microarray analysis followed by sequencing of the deletion breakpoints) to be the cause of Fragile X syndrome.
18403614 Data show that a single nucleotide variant in the Fragile X Mental Retardation Protein-1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.
18384784 Abnormal autoimmune function and expansions in triple CGG repeats on the FMR1 gene represent distinctively different etiologies for premature ovarian senescence in infertile patients.
18384784 Observational study of gene-disease association. (HuGE Navigator)
18384775 Mean triple CGG counts on the FMR1 gene increased in parallel to increasing severity of premature ovarian senescence.
18384775 Observational study of gene-disease association. (HuGE Navigator)
18373410 Observational study of gene-disease association. (HuGE Navigator)
18357616 the models outlined in this study provide significant evidence that the onset of FMR1-associated ovarian insufficiency, as marked by age at menopause, is controlled in part by additive genetic effects
18323308 70 CGG trinucleotide repeats present on the FMR1 gene, consistent with a premutation for fragile X syndrome.
18310677 Observational study of gene-disease association. (HuGE Navigator)
18310361 One in 3.5 women with a family history of fragile X and 1 in 10 with premature ovarian failure had a FMR1 mutation.
18273822 Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or Parkinsonism is reported.
18273822 Observational study of gene-disease association. (HuGE Navigator)
18225979 Fragile X neural progenitor cells have reduced expression of FMRP, and this decrease is maintained in culture and following differentiation
18211155 Men with FXTAS performed worse than controls on mental status, intelligence, executive cognitive functioning (ECF), working memory, remote recall of information, declarative learning and memory, information processing speed, and temporal sequencing.
18181681 This case report describes a novel polymorphism in the FMR1 gene that may cause difficulty in interpreting the Southern blot for diagnosis of fragile X syndrome.
18172867 The researchers identified increased numbers of repeats and greater variation of repeat numbers in FMR1 alleles in several Mexican populations.
18165971 Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning.
18165971 Observational study of gene-disease association. (HuGE Navigator)
18163424 FMRP negatively regulates TXNRD1 translation.
18093976 the COOH-terminal region of FMRP, as well as the conserved YG box and the region encoded by exon 7 of SMN, are required for the interaction.
18074381 Fragile X full mutation alleles composed of a few alleles: implications for CGG repeat expansion.
18057320 First report of a significant correlation between the premutation status of FMR1 and a motor feature of fragile X-associated tremor/ataxia syndrome in women.
18057083 report a discrepancy between obvious radiological presentations and minimal clinical involvement in two younger male premutation carriers of fragile X-associated tremor/ataxia
17978095 Although the majority of FMRP is incorporated into elongating polyribosomes in the soluble cytoplasm, microtubule-associated FMRP is predominantly retained in translationally dormant, polyribosome-free messenger ribonucleoprotein (mRNP) complexes.
17966892 Cessation of ovarian function at the age under 40 affects 1% of women in gen. population. This abnormality has been diagnosed in 16 to 21% of the carriers of premutation in the FMR1 gene. Carriers of the premutation should be offered genetic counseling.
17962727 NMR spectroscopy on in vitro transcribed CGG-repeat RNAs and see clear evidence of intramolecular hairpins, with no evidence of tetraplex structures. Both C*G and G*G base pairs form in the hairpin stem, though in a dynamic equilibrium of conformations
17932962 Abnormal development of specific brain regions characterizes a neuroanatomic phenotype associated with fragile X syndrome and may mediate the effects of FMR1 gene mutations on the cognitive and behavioral features of the disorder.
17922850 observed a 49 bp tandem duplication adjacent to the triplet repeat of the FMR1 gene and have shown it to occur as a variant in Finland in fragile X syndrome
17917121 Observational study of genotype prevalence. (HuGE Navigator)
17881655 FMRP acts also as a molecular adaptor between RNA granules and the neurospecific kinesin KIF3C.
17850748 Ile304Asn mutation both perturbs the structure and destabilizes fragile X mental retardation protein
17714511 RNA interference assay results showed that endogenous ZF5 acts as a repressor of the human FMR1 gene
17674408 Study identified a common SNP variant which cosegregates with the subset of D group haplotypes at highest risk of FMR1 expansion.
17620491 Observational study of genotype prevalence. (HuGE Navigator)
17620491 Broad screening for premutation alleles in Parkinson disease populations is unlikely to be productive in the absence of additional clinical or family history data that suggest involvement of the FMR1 gene.
17588953 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17588953 non-linear relationship among premutation carriers for ovarian insufficiency. mid-range repeat size group (80-100 repeats) had increased risk for: altered cycle traits (shortened cycle, irregular cycles & skipped cycles), subfertility & dizygotic twins
17548778 Observational study of gene-disease association. (HuGE Navigator)
17506288 data suggest a singular but relatively low genetic diversity at FMR1 in Mexican Mestizos from Mexico City & Mexican Amerindians from three indigenous communities that may be related to the recent origin of Mestizos & the low admixture rate of Amerindians
17290448 Carrier of (CGG)(91) allele, although showing a major radiological sign of symmetrical white-matter lesions in the middle cerebellar peduncles, did not have any significant neurological manifestation of temor/ataxia syndrome at 73 years of age.
17283214 Elevated FMR1 mRNA in premutation carriers is due to increased transcription.
17196195 FMR1 transcripts were detected in foreskin and male fetal lung fibroblasts, while FMR2 transcripts were not. However, both FMR1 and FMR2 were found to replicate late in S phase (approximately 6 h into the S phase of normal human fibroblasts).
17179750 Analysis of FMR1 messenger RNA (mRNA) within the intranuclear inclusions isolated from post-mortem brain tissue of a fragile X-associated tremor/ataxia syndrome (FXTAS) patient leads to a proposed RNA toxic gain-of-function model for FXTAS.
17101793 The FMR1 origin is active in transformed cell lines, fibroblasts from healthy individuals, fibroblasts from patients with fragile X syndrome, and fetal cells as early as 8 weeks old.
17097142 Fragile X syndrome offers a unique molecular model for autism since FMRP regulates the translation of many other genes involved in synaptic formation and plasticity which should be natural targets for further exploration.
17044853 A Strong linkage disequilibrium was observed between the CGG repeat and flanking FMR1 markers in all three Asian populations, with strong association between specific CGG repeat alleles and flanking marker alleles observed only in the Chinese and Malays.
16907702 Observational study of gene-disease association. (HuGE Navigator)
16907702 Increased repeat numbers of FMR1 allele is associated with negative cognitive performance
16905681 1st report of a significant relationship between FMR1 mRNA levels & CGG repeat number within the grey zone range. The threshold for onset of the increase in mRNA levels as a function of CGG repeat size is ~39 repeats & for rate reduction at ~54 repeats.
16891414 Data show that the fragile X mental retardation 1 promoter is at the center of a domain of reduced intersegment interactions that is larger than the domain marked only by histone modifications.
16819831 A thermodynamic analysis of the interactions between the FMRP RGG box domain and Sc1, an RNA molecule, was performed.
16793928 Observational study of genetic testing. (HuGE Navigator)
16708166 An 18-year-old girl presented with premature ovarian failure (POF) and features of BWS syndrome.
16636078 Data demonstrate that methylation of FMRP affects its ability to bind to FXR1P and regulate the translation of FMRP target mRNAs.
16508954 Data suggest that mathematics may be an area of relative weakness for the women with the FMR1 gene CGG premutation as well as the full mutation.
16500891 CREB/ATF family members and nuclear respiratory factor 2, but not upstream stimulatory factors, transactivate the FMR1 gene.
16500716 Short review role of Fmr1's role in alterations in the structure and plasticity of synapses on cerebellar Purkinje cells, and synaptic alterations are associated with deficits in the cerebellar learning.
16456258 Observational study of genetic testing. (HuGE Navigator)
16407062 The N-terminal domain of FMRP composite fold determines an allosteric mechanism that regulates the FMRP functions.
16361284 FMR1 expansion is associated with premature ovarian failure and the manifestation of the ovarian dysfunction could be influenced both by the pattern of interruption of the CGG repeat and by X-inactivation.
16337617 Mentally Retarded alleles have a lesser number of interspersed AGG and a longer pure 3' CGG repeat than the normal population. They are thus more prone to instability and expansion to long repeat lengths as in the fragile X syndrome of mental retardation.
16319129 Arginine methylation is a mechanism for modifying Fmrp function and occurs to limit or modulate RNA binding by Fmrp.
16271017 In fully mutated female carriers the methylation status at the EagI restriction site correlates with the levels of FMRP in blood and the fragile X phenotype.
16184602 Observational study of gene-disease association. (HuGE Navigator)
16184602 Evidence is provided concordant with an FMR1 RNA toxic gain-of-function model in a neuropsychiatric phenotype.
16161415 Observational study of genotype prevalence. (HuGE Navigator)
16117724 PARG is resident in FMRP (Fragile-X mental retardation protein)-associated messenger ribonucleoparticles complexes.
16078053 Observational study of gene-disease association. (HuGE Navigator)
16078053 FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.
16055059 Lack of FMRP leads to cerebellar deficits at both the cellular and behavioral levels and raise the possibility that cerebellar dysfunctions can contribute to motor learning deficits in Fragile X patients.
16049924 Total brain and cerebral volumes were significantly related to the number of CGG repeats in the FMR1 gene.
16006558 FMRP binds specifically to the brain cytoplasmic RNAs BC1/BC200 via a novel RNA-binding motif.
15971024 Observational study of gene-disease association. (HuGE Navigator)
15956167 Observational study of gene-disease association. (HuGE Navigator)
15950084 Observational study of gene-disease association. (HuGE Navigator)
15950084 analysis of FMR1 variation in the Mexican population
15930016 AP-2alpha associates with the Fmr1 promoter in vivo and selectively regulates Fmr1 transcription during embryonic development
15929093 Observational study of genotype prevalence. (HuGE Navigator)
15879417 Cytoplasmic FMRP interacting protein 2 is associated with development of atopic asthma in humans. Targeting cytoplasmic FMRP interacting protein 2 could be novel strategy for treating atopic asthma.
15861180 This review of FMRP provides important insights into the regulation and functions of local protein synthesis in the neuronal periphery, and increases our understanding of how these functions can produce specific effects at individual synapses.
15805463 Mental retardation associated with the I304N mutation, and likely the Fragile-X syndrome more generally, may relate to a crucial role for RNAs harboring the kissing complex motif as targets for FMRP translational regulation.
15742217 Extended premutation alleles are not detected are not detected in Parkinson Disease.
15741991 experiments indicate that H3-K4 methylation and DNA demethylation are the main epigenetic switches activating the expression of the FMR1 gene, with histone acetylation playing an ancillary role
15659577 Single nucleotide substitutions (AGG interruptions) in the CGG tracts play an important role in the formation of the FMR1 mRNA structure.
15642922 Observational study of genotype prevalence. (HuGE Navigator)
15629215 Here, we focus on one aspect of cognition that has been well documented in the fragile X full mutation, namely social cognition.
15617547 Observational study of gene-disease association. (HuGE Navigator)
15608041 Observational study of gene-disease association. (HuGE Navigator)
15608041 FMR1 repeat size in the lower range (<80 repeats) contributes to the variation in age at menopause; thus, FMR1 could be considered a quantitative trait locus.
15563507 histone deacetylation and H3-K9 methylation can be established and do not interfere with active gene transcription
15483640 Observational study of genotype prevalence. (HuGE Navigator)
15483640 FMR-1 premutations is associated with males presenting with ataxia
15483045 Observational study of gene-disease association. (HuGE Navigator)
15381024 CGG trinucleotide repeats of FMR1 in the premutation range affect specific neuronal circuits that are concordant with specific neuropsychological deficits; and that these deficits reflect an emerging neuropsychological phenotype of premutation FraX.
15377638 Analysis of the methylation status of the FMR1 promoter in cells derived from patients with Fragile X syndrome.
15300658 Observational study of gene-disease association. (HuGE Navigator)
15175277 regulated by transcription factors Nrf-1 and Sp1
15096575 FMRP was found to possess all the properties of a potent nucleic acid chaperone, requiring the KH motifs and RGG box for optimal activity
15065016 Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
15000256 Observational study of gene-disease association. (HuGE Navigator)
15000256 point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients
14993603 neural responses in the right ventrolateral prefrontal cortex and the left and right striatum were correlated with the level of FMR1 gene expression in fragile X syndrome
14755444 Observational study of gene-disease association. (HuGE Navigator)
14747503 The study demonstrates that older male carriers of premutation alleles of the FMR1 gene are at high risk of developing fragil X-associated tremor/ataxia syndrome.
14746957 FRAXA premutation strongly indicates sporadic and familial premature ovarian failure.
14599277 the most outstanding deficit, occurring especially in males with fragile X mental retardation protein, involved impaired capacity to use an intention to regulate purposeful behavior
14570712 We show that FMRP is phosphorylated between residues 483 and 521, N-terminal to the RGG box, both in murine brain and in cultured cells.
12950170 Data describe the ability of the FMRP N-terminus to form independently folded units (domains), which may play a role in its function.
12927206 By using cDNA-SELEX (systematic evolution of ligands by exponential enrichment), this study identified another class of human target-mRNAs which contain U rich sequences.
12810982 Relationship between the molecular defect in the FMR1 gene and the clinical phenotype associated with fragile x syndrome.
12745094 FMRP interacts with U-rich RNAs in a yeast three-hybrid system.
12596051 Observational study of genotype prevalence. (HuGE Navigator)
12596051 study on allelic/haplotypic fragile X associations among Indians; weak founder effect for the fragile X expansion mutation was found
12594214 The fragile X mental retardation protein FMRP binds elongation factor 1A mRNA and negatively regulates its translation in vivo.
12529854 Observational study of gene-disease association. (HuGE Navigator)
12529854 The CGG repeat in the 5'UTR exhibits remarkable instability upon transmission from mothers with premutation alleles.
12515381 The impairment of FMR1 mRNA translation in patients with the Fragile X syndrome with FMR1 premutation is the cause of the lower FMRP levels that leads to the clinical involvement
12417734 This report is the first example of trafficking of RNA-containing granules with FMRP as a core constituent in living PC12 cells.
12378270 Methylation of the arginine-glycine-rich region in this fragile X mental retardation protein differentially affects RNA binding.
12232854 Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome.
12210320 Observational study of genotype prevalence. (HuGE Navigator)
12116303 Observational study of genetic testing. (HuGE Navigator)
12116230 Observational study of genotype prevalence. (HuGE Navigator)
12112763 Functional brain activation during arithmetic processing in females with fragile X Syndrome is related to FMR1 protein expression.
12107447 The timing of both X-inactivation and full mutation FMR1 allele inactivation is different, i.e. X-inactivation occurs earlier in development than inactivation of the full mutation.
11992259 Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.
11897823 A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype.
11854169 Observational study of genotype prevalence. (HuGE Navigator)
11854169 The loss of AGG interruptions in CGG repeats leads to greatly increased instability of the gene.
11840495 Expression in lymphocytes corresponds with methylation of DNA. No association found between lymphocyte expression and IQ.
11545690 Meta-analysis and HuGE review of genotype prevalence, gene-disease association, genetic testing, and healthcare-related. (HuGE Navigator)
11443541 Observational study of genetic testing. (HuGE Navigator)
11415517 Observational study of genotype prevalence. (HuGE Navigator)
11256870 Observational study of gene-disease association. (HuGE Navigator)
11142761 Observational study of genetic testing. (HuGE Navigator)
11142760 Observational study of genetic testing. (HuGE Navigator)
11119302 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)

AA Sequence

MEELVVEVRGSNGAFYKAFVKDVHEDSITVAFENNWQPDRQIPFHDVRFPPPVGYNKDINESDEVEVYSR      1 - 70
ANEKEPCCWWLAKVRMIKGEFYVIEYAACDATYNEIVTIERLRSVNPNKPATKDTFHKIKLDVPEDLRQM     71 - 140
CAKEAAHKDFKKAVGAFSVTYDPENYQLVILSINEVTSKRAHMLIDMHFRSLRTKLSLIMRNEEASKQLE    141 - 210
SSRQLASRFHEQFIVREDLMGLAIGTHGANIQQARKVPGVTAIDLDEDTCTFHIYGEDQDAVKKARSFLE    211 - 280
FAEDVIQVPRNLVGKVIGKNGKLIQEIVDKSGVVRVRIEAENEKNVPQEEEIMPPNSLPSNNSRVGPNAP    281 - 350
EEKKHLDIKENSTHFSQPNSTKVQRVLVASSVVAGESQKPELKAWQGMVPFVFVGTKDSIANATVLLDYH    351 - 420
LNYLKEVDQLRLERLQIDEQLRQIGASSRPPPNRTDKEKSYVTDDGQGMGRGSRPYRNRGHGRRGPGYTS    421 - 490
GTNSEASNASETESDHRDELSDWSLAPTEEERESFLRRGDGRRRGGGGRGQGGRGRGGGFKGNDDHSRTD    491 - 560
NRPRNPREAKGRTTDGSLQIRVDCNNERSVHTKTLQNTSSEGSRLRTGKDRNQKKEKPDSVDGQQPLVNG    561 - 630
VP                                                                        631 - 632
//

Text Mined References (521)

PMID Year Title
26963595 2016 Analyzing the Role of MicroRNAs in Schizophrenia in the Context of Common Genetic Risk Variants.
26855684 2016 Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome.
26612855 2015 Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes.
26600526 2015 Molecular analysis of patients suspected of Fragile X Syndrome.
26558778 2015 Convergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-/y Mice.
26554012 2015 A 3' untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR.
26409477 2015 Evidence of an age-related correlation of ovarian reserve and FMR1 repeat number among women with "normal" CGG repeat status.
26393806 2015 Molecular mechanisms regulating impaired neurogenesis of fragile X syndrome human embryonic stem cells.
26393489 2015 Shared functional defect in IP?R-mediated calcium signaling in diverse monogenic autism syndromes.
26374839 2015 Crystal structure reveals specific recognition of a G-quadruplex RNA by a ?-turn in the RGG motif of FMRP.
26281226 [General and Specific Mechanisms of Visual Cognitive Function Impairment in People with FMRP Deficit].
26239490 2016 Dysregulation of FMRP/mTOR Signaling Cascade in Hypoxic-Ischemic Injury of Premature Human Brain.
26209748 2015 Early decline in functional ovarian reserve in young women with low (CGGn < 26) FMR1 gene alleles.
26194536 2015 A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.
26125897 2015 Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil.
26095811 2015 Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.
26095802 2015 DXS998-DXS548-FRAXAC1 represents a novel informative haplotype at the FMR1 locus in the Iranian population.
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26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25966634 2016 Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests.
25954027 2015 RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome.
25925982 2015 White matter disease and cognitive impairment in FMR1 premutation carriers.
25847585 2015 Alternatively spliced products lacking exon 12 dominate the expression of fragile X mental retardation 1 gene in human tissues.
25809302 2015 Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.
25796179 2015 Genetic analysis of FMR1 repeat expansion in essential tremor.
25792692 2015 Specific effect of the fragile-X mental retardation-1 gene (FMR1) on white matter microstructure.
25763861 2015 Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
25701550 2015 Fragile X mental retardation protein: A paradigm for translational control by RNA-binding proteins.
25693964 2015 A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.
25692235 2014 FMRP interacts with G-quadruplex structures in the 3'-UTR of its dendritic target Shank1 mRNA.
25689687 2015 Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males.
25636091 2015 [Analysis of AGG interspersion of the FMR1 gene in fragile X syndrome].
25579682 2014 FMR1 CGG allele length in Israeli BRCA1/BRCA2 mutation carriers and the general population display distinct distribution patterns.
25561520 2015 Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures.
25541421 2015 Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation.
25464849 2014 MOV10 and FMRP regulate AGO2 association with microRNA recognition elements.
25445105 2014 Gene variation and premature ovarian failure: a meta-analysis.
25418717 2014 FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cells.
25416956 2014 A proteome-scale map of the human interactome network.
25416280 2015 Human FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain.
25399540 2015 Immune mediated disorders in women with a fragile X expansion and FXTAS.
25358783 2014 Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation.
25358671 2015 Differential increases of specific FMR1 mRNA isoforms in premutation carriers.
25346430 2014 Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions.
25307758 2014 Extra alleles in FMR1 triple-primed PCR: artifact, aneuploidy, or somatic mosaicism?
25180401 2014 Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation.
25171808 Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening.
25153074 2014 Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers.
25055869 2014 Polycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription.
25050920 2014 FMR1 premutation is an uncommon explanation for premature ovarian failure in Han Chinese.
25036526 2014 Absence of BRCA/FMR1 correlations in women with ovarian cancers.
25019151 2014 Utilizing FMR1 gene mutations as predictors of treatment success in human in vitro fertilization.
24958193 2014 Fragile X gene expansions are not associated with dementia.
24938362 2014 AMH in women with diminished ovarian reserve: potential differences by FMR1 CGG repeat level.
24936518 2014 Simple molecular diagnostic method for fragile X syndrome in Egyptian patients: pilot study.
24912415 2014 Analysis of CGG repeats in FMR1 in Chinese women with idiopathic premature ovarian failure.
24903624 2014 Association between macroorchidism and intelligence in FMR1 premutation carriers.
24876161 2014 Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences.
24875300 2014 Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.
24838064 2014 Distribution of fragile X mental retardation protein in the human auditory brainstem.
24814676 2014 Age and CGG-repeat length are associated with neuromotor impairments in at-risk females with the FMR1 premutation.
24813610 2014 A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response.
24812319 2014 The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency.
24787137 2014 R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome.
24773414 2014 Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS.
24743386 2014 Transcription-associated R-loop formation across the human FMR1 CGG-repeat region.
24727796 2014 FMRP regulates miR196a-mediated repression of HOXB8 via interaction with the AGO2 MID domain.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24718368 2014 Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses.
24658146 2014 Subcellular fractionation and localization studies reveal a direct interaction of the fragile X mental retardation protein (FMRP) with nucleolin.
24612675 2014 Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers.
24591415 2014 CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.
24578575 2014 Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome.
24521091 2014 Symbolic sequence learning is associated with cognitive-affective profiles in female FMR1 premutation carriers.
24514761 2014 Fragile X mental retardation protein stimulates ribonucleoprotein assembly of influenza A virus.
24463622 2014 CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.
24462888 2014 Fragile X Syndrome: from molecular pathology to therapy.
24452737 2014 Association between fragile X premutation and premature ovarian failure: a case-control study and meta-analysis.
24448548 2014 Fragile X syndrome due to a missense mutation.
24428240 2015 Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.
24423935 2014 Intermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age.
24419320 2014 Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome.
24398265 2014 Altered neural activity in the 'when' pathway during temporal processing in fragile X premutation carriers.
24332449 2014 Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.
24289922 2014 The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells.
24281364 2014 BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24261641 2013 AGG/CCT interruptions affect nucleosome formation and positioning of healthy-length CGG/CCG triplet repeats.
24249225 2014 Biophysical characterization of G-quadruplex forming FMR1 mRNA and of its interactions with different fragile X mental retardation protein isoforms.
24207117 2013 The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies.
24204304 2013 Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies.
24184744 2014 Translational endpoints in fragile X syndrome.
24141422 2013 Genetic and acute CPEB1 depletion ameliorate fragile X pathophysiology.
24092663 2013 The fragile X protein binds mRNAs involved in cancer progression and modulates metastasis formation.
24065114 2014 The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations.
24045061 2013 Altered neural activity of magnitude estimation processing in adults with the fragile X premutation.
24028275 2014 FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile.
24003006 2013 High rates of comorbid depressive and anxiety disorders among women with premutation of the FMR1 gene.
23949867 2013 Maternal FMR1 premutation allele expansion and contraction in fraternal twins.
23948096 2013 FMR1-dependent variability of ovarian aging patterns is already apparent in young oocyte donors.
23896050 2013 Cognitive-motor interference during postural control indicates at-risk cerebellar profiles in females with the FMR1 premutation.
23891804 2013 FMRP and myelin protein expression in oligodendrocytes.
23874213 2013 Role of CTCF protein in regulating FMR1 locus transcription.
23867198 2013 Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.
23838275 2013 Contrast, motion, perceptual integration, and neurocognition in schizophrenia: the role of fragile-X related mechanisms.
23786467 2014 A family with two female siblings with compound heterozygous FMR1 premutation alleles.
23760159 2013 FMR1 low sub-genotype does not rescue BRCA1/2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA1/2-carriers.
23753897 2013 Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.
23740716 2013 FMR1 CGG expansions: prevalence and sex ratios.
23739124 2013 Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.
23731704 2013 The relationship between the number of CGG repeats and serum level of anti-Müllerian hormone in women without FMR1 premutation.
23703681 2014 Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency.
23683082 2014 Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample.
23660422 2013 Fragile X screening by quantification of FMRP in dried blood spots by a Luminex immunoassay.
23560306 2012 Unstable mutations in the FMR1 gene and the phenotypes.
23537988 2013 Study of FMR1 gene association with ovarian dysfunction in a sample from the Basque Country.
23528734 2013 Association of BRCA1/2 mutations with FMR1 genotypes: effects on menarcheal and menopausal age.
23527791 2014 Molecular dynamics simulations show how the FMRP Ile304Asn mutation destabilizes the KH2 domain structure and affects its function.
23523717 2013 Language dysfluencies in females with the FMR1 premutation.
23504400 2013 The role of genetic and autoimmune factors in premature ovarian failure.
23392687 2013 A target cell-specific role for presynaptic Fmr1 in regulating glutamate release onto neocortical fast-spiking inhibitory neurons.
23390134 2013 The 3' UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse.
23373759 2013 Prevalence and risk of migraine headaches in adult fragile X premutation carriers.
23356558 2013 Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus.
23313071 2013 Linking the Fragile X mental retardation protein to the lipoxygenase pathway.
23307923 2013 Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.
23298734 2013 Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome.
23266944 2014 Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansions.
23235829 2012 FMRP targets distinct mRNA sequence elements to regulate protein expression.
23219959 2013 Neural differentiation of Fragile X human Embryonic Stem Cells reveals abnormal patterns of development despite successful neurogenesis.
23211703 2013 Craniofacial characteristics of fragile X syndrome in mouse and man.
23198693 2013 New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23154068 2013 The association of CGG repeats in the FMR1 gene and timing of natural menopause.
23146966 2014 Fear-specific amygdala function in children and adolescents on the fragile x spectrum: a dosage response of the FMR1 gene.
23123760 2012 Genetics and mathematics: FMR1 premutation female carriers.
23111161 2013 Screening for the presence of FMR1 premutation alleles in women with fibromyalgia.
23060046 2013 Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.
23009394 2013 Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers.
22993428 2012 Learning and memory deficits consequent to reduction of the fragile X mental retardation protein result from metabotropic glutamate receptor-mediated inhibition of cAMP signaling in Drosophila.
22984553 2012 BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?
22963248 2012 Differences in ovarian aging patterns between races are associated with ovarian genotypes and sub-genotypes of the FMR1 gene.
22924671 2012 Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model.
22914733 2012 Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice.
22903700 2012 Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.
22890812 2012 Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
22887750 2013 Somatic expansion in mouse and human carriers of fragile X premutation alleles.
22880518 Fragile X-associated tremor/ataxia syndrome.
22863780 2012 DSCR1 interacts with FMRP and is required for spine morphogenesis and local protein synthesis.
22842191 2012 15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22811313 2012 The impact of androgen metabolism and FMR1 genotypes on pregnancy potential in women with dehydroepiandrosterone (DHEA) supplementation.
22797890 2012 Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.
22737234 2012 Fragile X mental retardation protein interacts with the RNA-binding protein Caprin1 in neuronal RiboNucleoProtein complexes [corrected].
22708486 2012 Fragile X mental retardation protein: past, present and future.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22619118 2012 Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.
22584570 2012 Neurodegeneration-associated TDP-43 interacts with fragile X mental retardation protein (FMRP)/Staufen (STAU1) and regulates SIRT1 expression in neuronal cells.
22581803 2012 Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserve.
22579290 2012 Species-dependent posttranscriptional regulation of NOS1 by FMRP in the developing cerebral cortex.
22573456 2012 Depression and anxiety symptoms among women who carry the FMR1 premutation: impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms.
22568721 2013 The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia.
22561129 2012 Spatiotemporal processing deficits in female CGG KI mice modeling the fragile X premutation.
22539853 2012 Evidence for a fragile X mental retardation protein-mediated translational switch in metabotropic glutamate receptor-triggered Arc translation and long-term depression.
22528549 2012 Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS).
22507827 2012 CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis.
22498846 2012 AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.
22493044 2012 Trisomic pregnancy and intermediate CGG repeat length at the FMR1 locus.
22489017 2012 Reduced telomere length in individuals with FMR1 premutations and full mutations.
22438971 2012 The impact in older women of ovarian FMR1 genotypes and sub-genotypes on ovarian reserve.
22430918 2012 Molecular analysis of FMR1 reactivation in fragile-X induced pluripotent stem cells and their neuronal derivatives.
22387066 2012 Screening for FMR1 expanded alleles in patients with parkinsonism in mainland China.
22357842 2012 Dephosphorylation-induced ubiquitination and degradation of FMRP in dendrites: a role in immediate early mGluR-stimulated translation.
22351071 2012 Molecular and cellular aspects of mental retardation in the Fragile X syndrome: from gene mutation/s to spine dysmorphogenesis.
22266345 2012 Why is vision impaired in fragile X premutation carriers? The role of fragile X mental retardation protein and potential FMR1 mRNA toxicity.
22251309 2012 Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts.
22235103 2012 Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study.
22211843 2012 Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.
22210492 2012 Unusual subcellular confinement of the fragile X mental retardation protein (FMRP) in circulating human platelets: complete polyribosome dissociation.
22207187 2012 Excess protein synthesis in FXS patient lymphoblastoid cells can be rescued with a p110?-selective inhibitor.
22161987 2012 Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.
22157911 2012 Intermediate and normal sized CGG repeat on the FMR1 gene does not negatively affect donor ovarian response.
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22101959 2012 The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): evidence for a complex inheritance.
22080836 2012 In vivo neuronal function of the fragile X mental retardation protein is regulated by phosphorylation.
22022567 2011 Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.
22001913 2012 Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.
21969264 2011 FMR1 and the continuum of primary ovarian insufficiency.
21944929 2011 Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency.
21932336 2011 Sleep apnea in fragile X premutation carriers with and without FXTAS.
21909353 2011 Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome.
21868366 2011 A new regulatory function of the region proximal to the RGG box in the fragile X mental retardation protein.
21818263 2011 The role of AGG interruptions in the transcription of FMR1 premutation alleles.
21786216 2011 Investigation of amygdala volume in men with the fragile X premutation.
21785977 2011 Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
21775729 2011 Selective executive markers of at-risk profiles associated with the fragile X premutation.
21767618 2011 FMR1 CGG repeat lengths mediate different regulation of reporter gene expression in comparative transient and locus specific integration assays.
21749915 2011 Fragile X protein expression is linked to visual functions in healthy male volunteers.
21723415 2011 FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.
21651511 2011 CGG repeat in the FMR1 gene: size matters.
21642970 2011 Structure-function studies of FMRP RGG peptide recognition of an RNA duplex-quadruplex junction.
21639881 2011 FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.
21630353 2011 Fragile X-associated tremor ataxia syndrome sine tremor.
21597380 2011 Predictors and risk model development for menopausal age in fragile X premutation carriers.
21596781 2011 Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome.
21576079 2011 Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriers.
21567456 2011 FMR1 gray-zone alleles: association with Parkinson's disease in women?
21554789 2011 Enhanced manual and oral motor reaction time in young adult female fragile X premutation carriers.
21526209 2011 Association of FMR1 genotypes with in vitro fertilization (IVF) outcomes based on ethnicity/race.
21484870 2011 Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene.
21478165 2011 Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles.
21445959 2011 White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism.
21443343 2011 Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome.
21427756 2011 Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.
21389081 2011 CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS.
21335413 2011 Variable expression of the Fragile X Mental Retardation 1 (FMR1) gene in patients with premature ovarian failure syndrome is not dependent on number of (CGG)n triplets in exon 1.
21295394 2011 Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments.
21276648 2011 A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency.
21270637 2011 Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.
21269460 2011 Initial characterization of the human central proteome.
21254876 2011 Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology.
21254619 [Allelic polymorphism of FMR1 gene CGG-repeat region in patients with impairment of natural and stimulated ovulation].
21209411 2011 Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
21179569 2010 FMR1 genotype with autoimmunity-associated polycystic ovary-like phenotype and decreased pregnancy chance.
21116185 2011 FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.
21047554 2011 BDNF and TrkB in neuronal differentiation of Fmr1-knockout mouse.
20981777 2010 The behavioral phenotype of FMR1 mutations.
20961665 2012 Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome.
20955631 2010 The FMR1 gene as regulator of ovarian recruitment and ovarian reserve.
20938029 2010 Motor and mental dysfunction in mother-daughter transmitted FXTAS.
20843831 2010 The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome.
20816038 2011 Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers.
20799337 2010 Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20727716 2010 Fragile X mental retardation protein levels are decreased in major psychiatric disorders.
20629912 2010 Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample.
20616364 2010 An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.
20597902 2010 Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.
20573435 2010 Mapping self-reports of working memory deficits to executive dysfunction in Fragile X Mental Retardation 1 (FMR1) gene premutation carriers asymptomatic for FXTAS.
20537351 2011 An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS).
20512134 2010 Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack.
20473314 2010 hnRNP C promotes APP translation by competing with FMRP for APP mRNA recruitment to P bodies.
20442204 Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P.
20435064 2010 Experimental identification of microRNA targets on the 3' untranslated region of human FMR1 gene.
20431035 2010 A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.
20410144 2010 Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome.
20398889 2010 Premature ovarian failure and FMR1 gene mutations: an update.
20378415 2010 Ovarian reserve determinations suggest new function of FMR1 (fragile X gene) in regulating ovarian ageing.
20362512 2010 The significance of the number of CGG repeats and autoantibodies in premature ovarian failure.
20298211 2010 The developmental roles of FMRP.
20228389 2010 Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure.
20221430 2010 Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
20187721 2010 Can the FMR1 gene predict early ovarian aging?
20168238 2010 Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.
20149747 2010 Effects of race/ethnicity on triple CGG counts in the FMR1 gene in infertile women and egg donors.
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20118148 2010 Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.
20082462 2010 Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20059484 2010 Co-occurring diagnoses among FMR1 premutation allele carriers.
20047076 2009 Fragile X mental retardation protein in learning-related synaptic plasticity.
19946888 2010 Defining the membrane proteome of NK cells.
19927162 2010 Examination of FMR1 transcript and protein levels among 74 premutation carriers.
19908235 2010 Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.
19864489 2010 Fibroblast phenotype in male carriers of FMR1 premutation alleles.
19863547 2009 Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population.
19853235 2009 A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome.
19810826 2009 High-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction technique.
19806593 2009 Molecular analysis of Fragile X syndrome.
19804849 2009 Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.
19796183 2009 Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.
19794313 2009 Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome.
19778484 2009 Relevance of triple CGG repeats in the FMR1 gene to ovarian reserve.
19764037 2009 Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome loss.
19760650 2009 Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.
19728537 2008 Fragile X gene stability in Basque Valleys: prevalence of premutation and intermediate alleles.
19712568 2009 CGG repeat sizing in the FMR1 gene in Indian women with premature ovarian failure.
19642041 2009 Correlation of triple repeats on the FMR1 (fragile X) gene to ovarian reserve: a new infertility test?
19619908 2009 Detection of FMR1-gene in Takotsubo cardiomyopathy: a new piece in the puzzle.
19574929 2009 Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment.
19574928 2009 Mouse models of fragile X-associated tremor ataxia.
19542082 2009 Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.
19525339 2009 Expansion of an FMR1 grey-zone allele to a full mutation in two generations.
19487368 2009 Discrimination of common and unique RNA-binding activities among Fragile X mental retardation protein paralogs.
19481741 2010 The effect of CGG repeat number on ovarian response among fragile X premutation carriers undergoing preimplantation genetic diagnosis.
19436069 2009 Ca2+/calmodulin-dependent protein kinase IV links group I metabotropic glutamate receptors to fragile X mental retardation protein in cingulate cortex.
19422761 2009 A review of fragile X premutation disorders: expanding the psychiatric perspective.
19396385 2008 Fragile X mental retardation protein recognition of G quadruplex structure per se is sufficient for high affinity binding to RNA.
19367323 2009 Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.
19361583 Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population.
19341325 2008 Haplotype and AGG interspersion analysis of FMR1 alleles in a Croatian population: no founder effect detected in patients with fragile X syndrome.
19273535 2009 The quadruplex r(CGG)n destabilizing cationic porphyrin TMPyP4 cooperates with hnRNPs to increase the translation efficiency of fragile X premutation mRNA.
19265746 2009 Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature.
19249802 2009 Fragile X mental retardation protein restricts replication of human immunodeficiency virus type 1.
19235102 Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia.
19215057 2009 Cholinergic dysfunction in fragile X syndrome and potential intervention: a preliminary 1H MRS study.
19211207 2010 Fragile X carrier screening and FMR1 allele distribution in the Japanese population.
19204162 2009 Screening for the presence of FMR1 premutation alleles in women with parkinsonism.
19197218 Is the immunological noise of abnormal autoimmunity an independent risk factor for premature ovarian aging?
19193898 2009 The FXG: a presynaptic fragile X granule expressed in a subset of developing brain circuits.
19166269 2009 A novel function for fragile X mental retardation protein in translational activation.
19155329 2009 Phosphorylation of FMRP inhibits association with Dicer.
19147914 2008 The AGG interruption pattern within the CGG repeat of the FMR1 gene among Taiwanese population.
19116286 2009 Can the FMR1 (fragile X) gene serve as predictor of response to ovarian stimulation?
19105204 2009 The FMR1 gene and fragile X-associated tremor/ataxia syndrome.
19097999 2009 Translational regulation of the human achaete-scute homologue-1 by fragile X mental retardation protein.
19056494 2009 Aberrant differentiation of glutamatergic cells in neocortex of mouse model for fragile X syndrome.
19041959 Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation.
19026394 2008 No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50.
19005212 2009 Cells lacking the fragile X mental retardation protein (FMRP) have normal RISC activity but exhibit altered stress granule assembly.
18973899 2009 Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency.
18936162 2009 Fragile X mental retardation protein FMRP binds mRNAs in the nucleus.
18922172 2008 Identifying intrinsic and extrinsic determinants that regulate internal initiation of translation mediated by the FMR1 5' leader.
18789568 2009 Visual pathway deficit in female fragile X premutation carriers: a potential endophenotype.
18687789 2008 A pseudo-full mutation identified in fragile X assay reveals a novel base change abolishing an EcoRI restriction site.
18664458 2008 Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP.
18656952 2008 Chemical and structural probing of the N-terminal residues encoded by FMR1 exon 15 and their effect on downstream arginine methylation.
18653529 2008 The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer.
18632687 2008 TDRD3, a novel Tudor domain-containing protein, localizes to cytoplasmic stress granules.
18630123 [Molecular-genetic analysis of natural and stimulated ovulation impairment].
18628788 2008 Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.
18583885 2008 Fragile X syndrome in Korea: a case series and a review of the literature.
18579868 2008 Fragile X mental retardation protein interactions with the microtubule associated protein 1B RNA.
18570292 2008 Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey.
18565783 2009 Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease.
18553360 2009 Mood and anxiety disorders in females with the FMR1 premutation.
18535897 2008 Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers.
18487560 2008 Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation.
18472033 2008 Age-dependent cognitive changes in carriers of the fragile X syndrome.
18471319 2008 An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1).
18427356 Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome.
18413472 2008 Abnormal nerve conduction features in fragile X premutation carriers.
18412117 2008 Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.
18403614 2008 A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.
18384784 2009 A pilot study of premature ovarian senescence: II. Different genotype and phenotype for genetic and autoimmune etiologies.
18384775 2009 A pilot study of premature ovarian senescence: I. Correlation of triple CGG repeats on the FMR1 gene to ovarian reserve parameters FSH and anti-Müllerian hormone.
18373410 2008 Screening for FXTAS in 95 Spanish patients negative for Huntington disease.
18357616 2008 Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity.
18323308 2008 Premature ovarian failure: a phenotypic expression of fragile X premutation.
18310677 2008 Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study.
18310361 2008 Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis.
18273822 2008 Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism.
18225979 2008 Normal Neurogenesis but Abnormal Gene Expression in Human Fragile X Cortical Progenitor Cells.
18211155 2008 Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome.
18181681 2008 A novel polymorphism in the FMR1 gene: implications for clinical testing of fragile X syndrome.
18172867 Genetic variation of the FMR1 gene among four Mexican populations: Mestizo, Huichol, Purepecha, and Tarahumara.
18165971 2008 Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: a controlled study.
18163424 2008 Identification of FMRP-associated mRNAs using yeast three-hybrid system.
18093976 2008 In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein.
18074381 2008 Fragile X full mutation alleles composed of few alleles: implications for CGG repeat expansion.
18057320 2008 FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
18057083 2008 A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes.
17978095 2008 Dynamic association of the fragile X mental retardation protein as a messenger ribonucleoprotein between microtubules and polyribosomes.
17966892 2007 [Abnormal function of ovaries in women carriers of premutation in the FMR1 gene].
17962727 2007 Secondary structure and dynamics of the r(CGG) repeat in the mRNA of the fragile X mental retardation 1 (FMR1) gene.
17932962 2008 Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP).
17922850 2007 A novel duplication in the FMR1 gene: implications for molecular analysis in fragile X syndrome and repeat instability.
17917121 2007 FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening.
17881655 2007 The fragile X mental retardation protein is a molecular adaptor between the neurospecific KIF3C kinesin and dendritic RNA granules.
17850748 2007 Fragile X mental retardation syndrome: structure of the KH1-KH2 domains of fragile X mental retardation protein.
17714511 2007 Novel repressor of the human FMR1 gene - identification of p56 human (GCC)(n)-binding protein as a Krüppel-like transcription factor ZF5.
17674408 2007 Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes.
17620491 2007 Screen for excess FMR1 premutation alleles among males with parkinsonism.
17588953 2007 Examination of reproductive aging milestones among women who carry the FMR1 premutation.
17548778 2007 FMR1 alleles in Parkinson's disease: relation to cognitive decline and hallucinations, a longitudinal study.
17506288 2006 FMR1 CGG repeat distribution and linked microsatellite-SNP haplotypes in normal Mexican Mestizo and indigenous populations.
17417632 2007 A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability.
17290448 2007 Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat.
17283214 2007 Elevated FMR1 mRNA in premutation carriers is due to increased transcription.
17196195 2007 Mapping of an origin of DNA replication in the promoter of fragile X gene FMR1.
17179750 2004 FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).
17101793 2007 An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene.
17097142 2007 Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X.
17057366 2006 Dicer-derived microRNAs are utilized by the fragile X mental retardation protein for assembly on target RNAs.
17044853 2006 FMR1 CGG repeat patterns and flanking haplotypes in three Asian populations and their relationship with repeat instability.
16922515 2006 Alternative splicing modulates protein arginine methyltransferase-dependent methylation of fragile X syndrome mental retardation protein.
16907702 2006 Investigating the relationship between FMR1 allele length and cognitive ability in children: a subtle effect of the normal allele range on the normal ability range?
16905681 2007 Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.
16891414 2006 The active FMR1 promoter is associated with a large domain of altered chromatin conformation with embedded local histone modifications.
16819831 2006 Thermodynamics of the fragile X mental retardation protein RGG box interactions with G quartet forming RNA.
16793928 2006 Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis.
16708166 2006 Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome.
16636078 2006 Methylation regulates the intracellular protein-protein and protein-RNA interactions of FMRP.
16631377 Local functions for FMRP in axon growth cone motility and activity-dependent regulation of filopodia and spine synapses.
16571602 2006 The nuclear microspherule protein 58 is a novel RNA-binding protein that interacts with fragile X mental retardation protein in polyribosomal mRNPs from neurons.
16508954 2006 Arithmetic difficulties in females with the fragile X premutation.
16500891 2006 The gene encoding the fragile X RNA-binding protein is controlled by nuclear respiratory factor 2 and the CREB family of transcription factors.
16500716 2006 The fragile X-cerebellum connection.
16456258 2005 Use of methylation sensitive polymerase chain reaction for detection of fragile X full mutation & carrier state in males.
16407062 2006 The structure of the N-terminal domain of the fragile X mental retardation protein: a platform for protein-protein interaction.
16361284 2006 Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.
16337617 2006 AGG interspersion analysis of the FMR1 CGG repeats in mental retardation of unspecific cause.
16319129 2006 Identification and characterization of the methyl arginines in the fragile X mental retardation protein Fmrp.
16271017 2005 Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype.
16184602 2005 Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation.
16161415 [The use of DNA analysis for diagnostics of hereditary premature ovarian failure].
16117724 2005 Poly(ADP-ribose) glycohydrolase is a component of the FMRP-associated messenger ribonucleoparticles.
16078053 2005 FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.
16055059 2005 Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome.
16049924 2005 Magnetic resonance imaging study in older fragile X premutation male carriers.
16006558 2005 Fragile X mental retardation protein (FMRP) binds specifically to the brain cytoplasmic RNAs BC1/BC200 via a novel RNA-binding motif.
15971024 2005 Examination of the effect of the polymorphic CGG repeat in the FMR1 gene on cognitive performance.
15956167 2005 FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.
15950084 Genetic diversity at the FMR1 locus in Mexican population.
15930016 2005 AP-2alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development.
15929093 2005 Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
15879417 2005 Positional identification of an asthma susceptibility gene on human chromosome 5q33.
15861180 2005 From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome.
15805463 2005 Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes.
15772651 2005 The DNA sequence of the human X chromosome.
15742217 2005 Expanded FMR1 alleles are rare in idiopathic Parkinson's disease.
15741991 2005 Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments.
15659577 2005 Facile FMR1 mRNA structure regulation by interruptions in CGG repeats.
15642922 2005 FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.
15629215 2005 The emerging fragile X premutation phenotype: evidence from the domain of social cognition.
15617547 2005 FMR1 alleles in Tasmania: a screening study of the special educational needs population.
15608041 2005 Association of FMR1 repeat size with ovarian dysfunction.
15563507 2005 Molecular dissection of the events leading to inactivation of the FMR1 gene.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15483640 2005 Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.
15483045 2004 The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy.
15381419 2004 The C terminus of fragile X mental retardation protein interacts with the multi-domain Ran-binding protein in the microtubule-organising centre.
15381024 2004 A neuropsychological investigation of male premutation carriers of fragile X syndrome.
15380484 2004 Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells.
15377638 2004 Loss of FMR1 hypermethylation in somatic cell heterokaryons.
15300658 2004 Screen for expanded FMR1 alleles in patients with essential tremor.
15282548 2004 Visualization of RNA-protein interactions in living cells: FMRP and IMP1 interact on mRNAs.
15175277 2004 Occupancy and synergistic activation of the FMR1 promoter by Nrf-1 and Sp1 in vivo.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15121898 2004 The composition of Staufen-containing RNA granules from human cells indicates their role in the regulated transport and translation of messenger RNAs.
15096575 2004 The fragile X mental retardation protein has nucleic acid chaperone properties.
15065016 2004 Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.
15000256 2004 Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan.
14993603 2004 Frontostriatal deficits in fragile X syndrome: relation to FMR1 gene expression.
14755444 2004 Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism.
14747503 2004 Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
14746957 2004 Premature ovarian failure and fragile X premutation: a study on 45 women.
14703574 2004 Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway.
14599277 2003 Effect of the fragile X status categories and the fragile X mental retardation protein levels on executive functioning in males and females with fragile X.
14570712 2003 Phosphorylation influences the translation state of FMRP-associated polyribosomes.
14532325 2003 Fragile X Mental Retardation protein determinants required for its association with polyribosomal mRNPs.
12950170 2003 The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.
12927206 2003 The fragile X mental retardation protein binds and regulates a novel class of mRNAs containing U rich target sequences.
12837692 2003 82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization.
12810982 [Molecular pathogenesis of fragile X syndrome].
12745094 2003 The fragile X mental retardation protein interacts with U-rich RNAs in a yeast three-hybrid system.
12596051 2003 FMR1 haplotype analyses among Indians: a weak founder effect and other findings.
12594214 2003 The fragile X mental retardation protein FMRP binds elongation factor 1A mRNA and negatively regulates its translation in vivo.
12575950 2003 RNA cargoes associating with FMRP reveal deficits in cellular functioning in Fmr1 null mice.
12529854 2003 Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.
12515381 2002 Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12446764 2002 Casein kinase II phosphorylates the fragile X mental retardation protein and modulates its biological properties.
12417734 2002 Transport of fragile X mental retardation protein via granules in neurites of PC12 cells.
12388589 2002 A receptor for activated C kinase is part of messenger ribonucleoprotein complexes associated with polyA-mRNAs in neurons.
12378270 2002 Methylation of the arginine-glycine-rich region in the fragile X mental retardation protein FMRP differentially affects RNA binding.
12232854 2002 Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome.
12210320 2002 Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations.
12147688 2002 Identification of mRNA/protein (mRNP) complexes containing Puralpha, mStaufen, fragile X protein, and myosin Va and their association with rough endoplasmic reticulum equipped with a kinesin motor.
12116303 2002 Pilot study for the neonatal screening of fragile X syndrome.
12116230 2002 Prevalence of the fragile X syndrome in African-Americans.
12112763 2002 Functional brain activation during arithmetic processing in females with fragile X Syndrome is related to FMR1 protein expression.
11992259 2002 Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.
11854169 2002 Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles.
11719189 2001 Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function.
11719188 2001 Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome.
11545690 FMR1 and the fragile X syndrome: human genome epidemiology review.
11532944 2001 The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif.
11445641 2001 Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.
11443541 2001 Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.
11438699 2001 A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P.
11415517 2000 Genetic diversity at the FMR1 locus in the Indonesian population.
11367701 1998 [Screening of proteins interact with FMR1 by yeast two-hybrid system].
11256870 2001 Implications of the FMR1 gene in menopause: study of 147 Spanish women.
11162447 2000 Identification of mouse YB1/p50 as a component of the FMRP-associated mRNP particle.
11157796 2001 Evidence that fragile X mental retardation protein is a negative regulator of translation.
11142761 2000 The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families.
11142760 2000 FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation.
11129329 2000 Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure.
11119302 2001 Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population.
10888599 2000 The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins.
10729312 2000 Mapping of the POF1 locus and identification of putative genes for premature ovarian failure.
10567518 1999 Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex.
10556305 1999 A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein.
10527928 1999 Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P.
10398250 1999 Workshop on fragile X: future research directions.
10196376 1999 Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations.
9829913 1998 Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome.
9719368 1998 Studies of FRAXA and FRAXE in women with premature ovarian failure.
9659908 1997 FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association.
9497258 1998 A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.
9375856 1997 Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome.
9302998 1997 The solution structure of the first KH domain of FMR1, the protein responsible for the fragile X syndrome.
8789445 1996 Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms.
8668200 1996 Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them.
8528261 1996 The fragile X mental retardation protein is associated with ribosomes.
8515814 1993 Characterization and localization of the FMR-1 gene product associated with fragile X syndrome.
8504300 1993 Alternative splicing in the fragile X gene FMR1.
8490650 1993 A point mutation in the FMR-1 gene associated with fragile X mental retardation.
8401578 1993 The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.
8401531 1993 Alternative splicing in the fragile X gene FMR1.
8401496 1993 Fine structure of the human FMR1 gene.
8358432 1993 Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat.
8348153 1993 Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain.
8156595 1994 Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome.
8095365 1993 Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.
8069329 1994 Fine structure of the human FMR1 gene.
7825604 1995 Two new cases of FMR1 deletion associated with mental impairment.
7781595 1995 FXR1, an autosomal homolog of the fragile X mental retardation gene.
7692601 1993 FMR1 protein: conserved RNP family domains and selective RNA binding.
7688265 1993 The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein.
7670500 1995 Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome.
7633450 1995 Characterization of FMR1 proteins isolated from different tissues.
7489725 1995 The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2.
7141005 1982 Premature gonadal failure.
2988332 1985 Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3.
1913811 1991 Subunit promiscuity among hemopoietic growth factor receptors.
1757956 1991 Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.
1710175 1991 Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
1572655 1992 Mapping of FMR1, the gene implicated in fragile X-linked mental retardation, on the mouse X chromosome.